The Journal of Inherited Metabolic Disease
@JIMD_Editors
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At a recent Council meeting a decision was made that the SSIEM will no longer interact with X. Please find us on any other Social Media channel.
Joined March 2016
At a recent SSIEM Council meeting, a decision was made that SSIEM will no longer interact with X. You can still find us on other social media platforms including Bluesky, LinkedIn, Facebook and Instagram.
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RT @Info_Rares: I'm deeply honored to join Journal of Innate Metabolism as a member of the Senior Editorial Board and very grateful to Prof….
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Friday is podcast day 👉 🎧. Jessica Gold discusses executive function in MSUD and its impact on transition. Spotify: Or search for "JIMD Podcasts". @ReadySteadyGo3
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In this new publication Eva Hoytema van Konijnenburg et al start….Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.
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In this new publication in #JIMDReports Marli Dercksen et al describe the… Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa.
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RT @BIMDG: Spring Bulletin out now. 2025 has seen a number of changes including a new website, revamped guidelines and now a new look bul….
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Fascinating new Report about a child with a diagnosis of Propionic acidemia who followed a very unusual clinical course and this forced the clinical team to consider the possibility of a second genetic diagnosis.
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BIMDG 2025 Annual Meeting: 17 - 18 June 25. The British Inherited Metabolic Disease Group annual meeting is to take place in Edinburgh this year. It promises to be an entertaining & educational meeting and the organisers are asking for your involvement.
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RT @JIMD_Editors: The "Metabolic Mysteries" series returns with a discussion of a 13-month-old girl with hypoglycaemia. Dr Ashlee Stiles cl….
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RT @JIMD_Editors: Silent genes whisper, .Metabolic paths diverge, .Kyoto’s grace heals all. Registration and Abstract Submission is now op….
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The refreshing summer drink that could hospitalise your child!! . (Skip the hyperbole and find the full paper here: . Sharing from an IMD account because ketotic hypoglycaemia and lactic acidosis looks like a possible metabolic disorder.
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Silent genes whisper, .Metabolic paths diverge, .Kyoto’s grace heals all. Registration and Abstract Submission is now open for the ICIEM 2025 meeting in Kyoto.
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RT @ArcturusRx: In @JIMD_Editors' podcast, “Exploring RNA therapeutics for Urea Cycle Disorders” with Dr. Lourdes Ruiz Desviat, gives a bri….
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No 11 of the top 100 Genetics Podcasts. I’ll take that. There’s never been a better time to start listening to the JIMD Podcast.
🧬🎙️ The Top 100 Genetics Podcasts of 2025 Are Here! 🎧🔍. 🔗 Discover the full list here: For scientists, researchers & curious minds—this is your go-to resource for connecting with top genetics podcasters. Find the best shows covering DNA research, gene
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RT @JIMD_Editors: Just 18% of Inherited Metabolic Disorders have a treatment, but which ones are they and how can you find out more?. Spoti….
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The "Metabolic Mysteries" series returns with a discussion of a 13-month-old girl with hypoglycaemia. Dr Ashlee Stiles clearly shows why critical sample collection is key and reminds all of us: Don't forget the urine!. Listen here:
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RT @drmankad: #AI rounds in #Pedineurorad: This week we review another mitochondrial disorder driven by ECHS1 (Enoyl-CoA Hydratase Short Ch….
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RT @eventsWCS: Demonstrate how #multiomics approaches can strengthen insights into #MetabolicDisease🧬. Join a fantastic speaker lineup at #….
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